基因名:
ME2
产品别名:
ODS1; ME2; malic enzyme 2; malic enzyme 2; NAD-dependent malic enzyme, mitochondrial; NAD-ME; malate dehydrogenase (oxaloacetate-decarboxylating); malic enzyme 2, NAD(+)-dependent, mitochondrial; pyruvic-malic carboxylase; NADP依赖性苹果酶2(ME2); 胞浆苹果酸酶2;
背景信息:
This gene encodes a mitochondrial NAD-dependent malic enzyme, a homotetrameric protein, that catalyzes the oxidative decarboxylation of malate to pyruvate. It had previously been weakly linked to a syndrome known as Friedreich ataxia that has since been shown to be the result of mutation in a completely different gene. Certain single-nucleotide polymorphism haplotypes of this gene have been shown to increase the risk for idiopathic generalized epilepsy. Alternatively spliced transcript variants encoding different isoforms found for this gene. [provided by RefSeq, Dec 2009]